719944006: Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \constatation à propos de la pilosité\trouble de la pilosité\...
• \Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Disorder of soft tissue\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of soft tissue\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318544012	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318545013	Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318546014	Oliver McFarlane syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318547017	This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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